rs121917737

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	5.5	Idiopathic Pulmonary Fibrosis (IPF) mutation

Make rs121917737(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

79557264

Gene

SFTPA2

is a	snp
is	mentioned by
dbSNP	rs121917737
dbSNP (classic)	rs121917737
ClinGen	rs121917737
ebi	rs121917737
HLI	rs121917737
Exac	rs121917737
Gnomad	rs121917737
Varsome	rs121917737
LitVar	rs121917737
Map	rs121917737
PheGenI	rs121917737
Biobank	rs121917737
1000 genomes	rs121917737
hgdp	rs121917737
ensembl	rs121917737
geneview	rs121917737
scholar	rs121917737
google	rs121917737
pharmgkb	rs121917737
gwascentral	rs121917737
openSNP	rs121917737
23andMe	rs121917737
SNPshot	rs121917737
SNPdbe	rs121917737
MSV3d	rs121917737
GWAS Ctlg	rs121917737

Max Magnitude

5.5

aka c.692G>T (p.Gly231Val or G231V)

see also OMIM 178642.0001

OMIM	178642
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121917737(T;T)
Alt	rs121917737(T;T)
Reference	Rs121917737(G;G)
Significance	Pathogenic
Disease	Idiopathic fibrosing alveolitis
Variation	info
Gene	SFTPA2
CLNDBN	Idiopathic fibrosing alveolitis, chronic form
Reversed	1
HGVS	NC_000010.10:g.81317020C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014086.24,